Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes
| Autor: | Szymon Janczar, Arkadiusz Michalak, Wojciech Młynarski, Marta Surman, Agnieszka Szadkowska, Karolina Trojan-Borczynska, Anna Hogendorf |
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| Rok vydání: | 2021 |
| Předmět: |
18q deletion syndrome
Pediatrics medicine.medical_specialty medicine.drug_class Primary Immunodeficiency Diseases Immunology Antibiotics Immunoglobulins Case Report Autoimmunity Chromosome Disorders Vitiligo medicine.disease_cause SCIG Autoimmune thyroiditis Immune system Diabetes mellitus medicine Humans Immunology and Allergy Child Adverse effect IgAD Pharmacology Type 1 diabetes business.industry CVID immune deficiency medicine.disease immunoglobulin replacement therapy Diabetes Mellitus Type 1 Female Chromosome Deletion Chromosomes Human Pair 18 business |
| Zdroj: | International Journal of Immunopathology and Pharmacology |
| ISSN: | 2058-7384 |
| Popis: | 18q deletion syndrome (OMIM #601808) results from a deletion of a part of a long arm of 18 chromosome and is characterized by mental retardation and congenital malformations. We present an exceptional case of a 12-year-old girl with severe phenotype of 18q deletion syndrome, frequent infections, type 1 diabetes, autoimmune thyroiditis, and vitiligo. At first, the patient was diagnosed with selective immunoglobulin A (sIgAD) which explained her susceptibility to both infections and autoimmunity. With time, sIgAD progressed to common variable immune deficiency-like (CVID-like) disorder. She had a minimum of 12 infections per year, approximately twice as many courses of different antibiotics and up to three hospitalizations annually, making the treatment of diabetes difficult. Due to safety issues (increased risk of adverse reaction to blood products) and patient’s convenience, subcutaneous IgG (SCIG) replacement therapy was initiated. We noticed a substantial decrease in the number of infections and improvement of metabolic control of diabetes. |
| Databáze: | OpenAIRE |
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